ClinVar for MedGen (Select 337526) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683623	NM_004615.4(TSPAN7):c.248G>C (p.Gly83Ala)	TSPAN7 (G83A)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 58	GUncertain significance
Select item 1327408	GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3	TSPAN7	Copy number gain	Intellectual disability, X-linked 58	Gnot provided
Select item 1164055	NM_004615.4(TSPAN7):c.289del (p.Leu97fs)	TSPAN7 (L97fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 58	GPathogenic
Select item 130644	NM_004615.4(TSPAN7):c.237T>C (p.Ala79=)	TSPAN7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 95155	NM_004615.3(TSPAN7):c.-33_-31CCG[6]	TSPAN7	Microsatellite	Intellectual disability, X-linked 58 +1 more	GBenign
Select item 11631	NM_004615.4(TSPAN7):c.572_573del (p.Val191fs)	TSPAN7 (V191fs)	Microsatellite (frameshift variant)	Intellectual disability, X-linked 58	GPathogenic
Select item 11630	NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)	TSPAN7 (P172H)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 11629	NM_004615.4(TSPAN7):c.652G>T (p.Gly218Ter)	TSPAN7 (G218*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 58	GPathogenic

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